TPO, thyroid peroxidase, 7173

N. diseases: 306; N. variants: 47
Disease: Congenital Hypothyroidism ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs200475577
rs200475577
Entrez Id: 7173
Gene Symbol: TPO
TPO
CUI: C0010308
Disease:
Congenital Hypothyroidism 		0.020 GeneticVariation BEFREE Sequencing other CH candidate genes in the patients with TPO variants revealed that patient 1 was homozygous for c.2422delT TPO mutation combined with double heterozygous DUOX2 pathogenic variants (p.R683L/p.L1343F) and patient 2 was triallelic for TPO pathogenic variants (p.R648Q/p.T561M/p.T561M). 27173810 2016
dbSNP: rs200475577
rs200475577
Entrez Id: 7173
Gene Symbol: TPO
TPO
CUI: C0010308
Disease:
Congenital Hypothyroidism 		0.020 GeneticVariation BEFREE Compound heterozygous mutations (p.T561M and c.2422delT) in the TPO gene associated with congenital hypothyroidism. 27135621 2016